Clinical Research Study Viewer

Gene Transfer Clinical Trial for Limb Girdle Muscular Dystrophy Type 2D (LGMD2D)

Study Details

Principal Investigator

Jerry Mendell, MD, Nationwide Children's Hospital

Study Title and Phase

Phase I/II gene transfer clinical trial for Limb Girdle Muscular Dystrophy Type 2D (LGMD2D)

Procedure

The vector delivered via direct intravascular delivery to a lower limb artery to a single leg (cohort 1A) or to both legs (cohort 1B and 2). Study participants will receive general anesthesia for the procedure.

Study Duration

Two years. Follow-up visits after 1 week, 2 weeks, 1 month, 2 months, 3 months, 6 months, 1 year and 2 years. 

Inclusion Criteria

  • Confirmed alpha-sarcoglycan deficiency
  • Males or females (of any ethnic group) eligible
  • Age 7 years or older
    • Cohort 1A: Adult, wheelchair dependent
    • Cohort 1B and 2: Ambulant, Gower's, uses handrail for stairs, performs 6MWT with >2SD below average
  • Onset of weakness by age 5
  • Able to cooperate with muscle testing
  • Use of reliable method of contraception (if sexually active)

Exclusion Criteria

  • Active viral infection
  • No weakness or loss of function (despite LGMD-2D diagnosis)
  • Symptoms of cardiomyopathy
    • Dyspnea on exertion
    • Shortness of breath when supine (lying down)
    • Echocardiogram with ejection fraction < 40%
    • Pedal edema
    • Rales at base of lungs
  • Ongoing illness or need for drug treatment which principal investigator deems unsafe for gene transfer
  • Clinically significant, abnormal lab values for GGT, creatinine, WBC, bilirubin and Hgb
  • Pregnancy
  • HIV or autoimmune disease
  • Hep A, B, or C infection
  • rAAVrh74 or AAV8 antibody titer >1.50 by ELISA testing

Coordinator Contact Information

Beverly Galliers
Beverly.Galliers@NationwideChildrens.org
614-355-3424

Nationwide Children's Hospital
700 Children's Drive Columbus, Ohio 43205 614.722.2000